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Summary Literature (0)
DOID:0112339 - Tatton-Brown-Rahman syndrome

Disease Ontology Definition:A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in DNMT3A on chromosome 2p23.3.

Synonyms: DNMT3A overgrowth syndrome, DOS, TBRS, Tatton-Brown-Rahman overgrowth syndrome

Xenbase Genes : dnmt3a


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndromic intellectual disability (is_a)